Yasuki Ishihara

发表

Pathogenic Variants of the PHEX Gene

Y. Ohata, Yasuki Ishihara, 2022, Endocrines.

HECW2‐related disorder in four Japanese patients

K. Kosaki, Y. Sakata, Makiko Maeda, 2021, American journal of medical genetics. Part A.

A novel nonsense variant in ARID1B causing simultaneous RNA decay and exon skipping is associated with Coffin-Siris syndrome

Y. Asano, M. Masuno, T. Otomo, 2022, Human Genome Variation.

A recurrent de novo ZSWIM6 variant in a Japanese patient with severe neurodevelopmental delay and frequent vomiting

Y. Sakata, Toshiyuki Yamamoto, Y. Asano, 2021, Human genome variation.

Pathogenic variants of the GNAS gene introduce an abnormal amino acid sequence in the β6 strand/α5 helix of Gsα, causing pseudohypoparathyroidism type 1A and pseudopseudohypoparathyroidism in two unrelated Japanese families

K. Ozono, Kenichi Yamamoto, T. Kubota, 2022, Bone reports.

Recurrent de novo pathogenic variant of WASF1 in a Japanese patient with neurodevelopmental disorder with absent language and variable seizures

Toshiyuki Yamamoto, Yusaku Miyamoto, Tomoe Yanagishita, 2021, Human Genome Variation.

Recurrent de novo pathogenic variant of WASF1 in a Japanese patient with neurodevelopmental disorder with absent language and variable seizures

Toshiyuki Yamamoto, Y. Asano, Yusaku Miyamoto, 2021, Human genome variation.

Potential pathological role of single nucleotide polymorphism (c.787T>C) in alkaline phosphatase (ALPL) for the phenotypes of hypophosphatasia.

T. Morio, K. Ozono, T. Kubota, 2020, Endocrine journal.

A novel nonsense variant in ARID1B causing simultaneous RNA decay and exon skipping is associated with Coffin-Siris syndrome

M. Masuno, T. Otomo, T. Moriwaki, 2022, Human Genome Variation.

Novel BCL11B truncation variant in a patient with developmental delay, distinctive features, and early craniosynostosis

Toshiyuki Yamamoto, Y. Aihara, Kentaro Chiba, 2022, Human Genome Variation.

Genotype-phenotype analysis, and assessment of the importance of the zinc-binding site in PHEX in Japanese patients with X-linked hypophosphatemic rickets using 3D structure modeling.

K. Ozono, H. Mabe, Kenichi Yamamoto, 2021, Bone.

Craniofacial and dental characteristics of three Japanese individuals with genetically diagnosed SATB2‐associated syndrome

T. Inubushi, Toshiyuki Yamamoto, K. Fujioka, 2023, American journal of medical genetics. Part A.

Novel BCL11B truncation variant in a patient with developmental delay, distinctive features, and early craniosynostosis

Toshiyuki Yamamoto, Y. Aihara, Kentaro Chiba, 2022, Human Genome Variation.

A family with brachydactyly mental retardation syndrome with a missense variant in HDAC4

K. Ozono, Kenichi Yamamoto, T. Kubota, 2023, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

Human leukocyte antigen-DQ risk heterodimeric haplotypes of left ventricular dysfunction in cardiac sarcoidosis: an autoimmune view of its role

Takahisa Yamada, H. Kioka, K. Onoue, 2023, Scientific reports.

MYH9-related disorder with sole presentation of end-stage kidney disease and long-term, recurrence-free living after living donor renal transplantation: a case report.

H. Kishikawa, K. Yamanaka, Yohei Miyashita, 2024, CEN case reports.